Neuraminidase deficiency presenting as non-immune hydrops fetalis.
Eur J Pediatr
; 143(2): 135-9, 1984 Dec.
Article
en En
| MEDLINE
| ID: mdl-6240403
A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine, and therefore a neurovisceral degenerative disorder was assumed. The diagnosis of sialidosis was confirmed by enzymatic assay in cultured fibroblasts, in which a complete deficiency of the lysosomal enzyme neuraminidase could be demonstrated. After recurrent septicaemias the child became dystrophic and died at the age of 6 months. Our case is compared with sialidosis observed by other authors, the wide phenotypic diversity within this biochemical defect is emphasised. The occurrence of hydrops fetalis in lysosomal storage diseases is discussed.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Edema
/
Lisosomas
/
Mucolipidosis
/
Neuraminidasa
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Eur J Pediatr
Año:
1984
Tipo del documento:
Article
Pais de publicación:
Alemania